A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543779



Internal ID18744855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:84310762..84311087hg38UCSC Ensembl
Outerchr8:84310738..84311135hg38UCSC Ensembl
Innerchr8:85222997..85223322hg19UCSC Ensembl
Outerchr8:85222973..85223370hg19UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg38398
hg19398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9742526
Samples
Known GenesRALYL
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543779
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer